HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86668112A>G , CM000670.2:g.86668112A>G | GRCh38 |
NC_000008.10:g.87680340A>G , CM000670.1:g.87680340A>G | GRCh37 |
NC_000008.9:g.87749456A>G | NCBI36 |
NG_016980.1:g.80564T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320005.6:c.550T>C MANE Select | ENSP00000316605.5:p.Tyr184His | |
ENST00000681746.1:c.550T>C | ENSP00000505959.1:p.Tyr184His | |
ENST00000320005.5:c.550T>C | ENSP00000316605.5:p.Tyr184His | |
NM_019098.4:c.550T>C | NP_061971.3:p.Tyr184His | |
XM_011517138.1:c.136T>C | XP_011515440.1:p.Tyr46His | |
XM_011517138.2:c.136T>C | XP_011515440.1:p.Tyr46His | |
NM_019098.5:c.550T>C MANE Select | NP_061971.3:p.Tyr184His |